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Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlates.

作者信息

Ravaglia Sabrina, Gana Simone, Valente Enza Maria

机构信息

Neuromuscular Unit, IRCCS Fondazione Mondino, Pavia, Italy.

Neurogenetics Research Center, IRCCS Fondazione Mondino, Pavia, Italy.

出版信息

Pediatr Res. 2024 Jul;96(2):279-280. doi: 10.1038/s41390-024-03149-9. Epub 2024 Mar 21.

DOI:10.1038/s41390-024-03149-9
PMID:38514859
Abstract
摘要

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本文引用的文献

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Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.糖原贮积病 V 型的诊断准确性和首个基因型-表型相关性。
Pediatr Res. 2024 Jul;96(2):365-371. doi: 10.1038/s41390-023-02943-1. Epub 2023 Dec 5.
2
Can a modified ketogenic diet be a nutritional strategy for patients with McArdle disease? Results from a randomized, single-blind, placebo-controlled, cross-over study.改良生酮饮食能否成为麦克尔氏病患者的一种营养策略?一项随机、单盲、安慰剂对照、交叉研究的结果。
Clin Nutr. 2023 Nov;42(11):2124-2137. doi: 10.1016/j.clnu.2023.09.006. Epub 2023 Sep 20.
3
Development of Continuum of Care for McArdle disease: A practical tool for clinicians and patients.
麦克尔迪氏病连续性护理的发展:临床医生和患者的实用工具。
Neuromuscul Disord. 2023 Jul;33(7):575-579. doi: 10.1016/j.nmd.2023.05.006. Epub 2023 Jun 12.
4
Metabolic Myopathies in the Era of Next-Generation Sequencing.代谢性肌病的下一代测序时代。
Genes (Basel). 2023 Apr 22;14(5):954. doi: 10.3390/genes14050954.
5
PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features.PYGM mRNA 在 McArdle 病中的表达:人口统计学、临床、形态学和遗传学特征。
PLoS One. 2020 Jul 31;15(7):e0236597. doi: 10.1371/journal.pone.0236597. eCollection 2020.
6
McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients.麦克尔迪氏病:60例患者的临床、生化、组织学及分子遗传学分析
Biomedicines. 2020 Feb 15;8(2):33. doi: 10.3390/biomedicines8020033.
7
Missense mutations have unexpected consequences: The McArdle disease paradigm.错义突变会产生意想不到的后果:McArdle 疾病范例。
Hum Mutat. 2018 Oct;39(10):1338-1343. doi: 10.1002/humu.23591. Epub 2018 Jul 26.
8
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.所有西班牙 McArdle 病患者的基因型和表型特征:2016 年更新。
BMC Genomics. 2017 Nov 14;18(Suppl 8):819. doi: 10.1186/s12864-017-4188-2.
9
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.麦克尔迪氏病:PYGM基因中已报道的突变和多态性的更新
Hum Mutat. 2015 Jul;36(7):669-78. doi: 10.1002/humu.22806. Epub 2015 Jun 3.
10
Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.McArdle 病的基因型和表型特征:来自西班牙国家登记处的见解。
J Neurol Neurosurg Psychiatry. 2012 Mar;83(3):322-8. doi: 10.1136/jnnp-2011-301593. Epub 2012 Jan 16.